The WT1 tumor suppressor gene was examined for mutations in a panel of
44 patients with myelodysplastic syndromes (MDS) including acute myel
ogenous leukemias (AML) secondary to MDS, using polymerase chain react
ion single strand conformation polymorphism (PCR-SSCP) analysis and se
quencing analysis. A WT1 mutation was detected in one out of 17 cases
of AML secondary to MDS. This mutation exists upstream of the zinc fin
ger region and is predicted to produce a truncated WT1 protein lacking
the zinc finger region, No mutations were detected in 27 MDS patients
who had not progressed to AML. This is the first report of analysis f
or WT1 mutations in a large number of MDS patients, suggesting that WT
1 mutations are uncommon in MDS, Abnormalities in this gene may, howev
er, contribute to a small proportion of cases showing progression from
MDS into AML.